Allele Registry

Canonical Allele Identifier: PA094636

Gene: SMN1 HGNC NCBI

ClinVar RCV:

RCV000009738

ClinVar Variation:

9167

HGVS (amino-acid)	Matching Registered Transcripts
NP_000335.1:p.Gly279Val	CA254679 NM_000344.4:c.836G>T